Influence of glucose-6 phosphate dehydrogenase (G6-PD) deficiency upon clinico-haematological and biochemical expression of patients with sickle cell disease
Keywords:Anaemia, Crisis, Icterus, Pallor, Unconjugated bilirubin
Background: According to world health organization, G6PD deficiency constitute 7.5% of world population as carriers whereas 2.9% as deficient. It has been reported from India that the prevalence varies from 0-27% in different caste, ethnic and linguistic groups. Various studies have revealed strong interaction between G6PD deficiency and sickle cell genes on one hand and environment on the other, one may therefore expect changes in their frequencies over a period of time in the population. We studied the influence of G6PD deficiency upon the clinico-haematological and biochemical expression of sickle cell disease.
Methods: The study was carried out prospectively from September 2010 to August 2011 in the department of Pathology at our institute. The material for the present study consisted of 100 cases including 76 patients with Sickle cell disease and 24 of control group. On all the samples after screening and confirmatory tests, hematological and biochemical tests were performed and discussed along with their clinical profiles.
Results: A total of 100 patients were studied, 76 were of sickle cell disease and remaining 24 patients were of control group. Majority of sickle cell trait (AS) patients (55.6%) and control patients (54%) had mild anaemia while most of the sickle cell anemia (SS) patients (44.4%) had moderate anaemia. The 2 (100%) AS and 1 (100%) control G6PD deficient patients had moderate anemia while the 2 (100%) SS patients with G6PD deficiency had severe anemia. All the sickle cell disease and control patients with G6PD deficient had elevated serum bilirubin and in all of them only unconjugated bilirubin was raised. None of the SS patients were asymptomatic. All the G6PD deficient patients had pallor and icterus. Vaso-occlusive crisis, acute chest syndrome and infectious episode were present in one (50%) each of AS and SS patients with G6PD deficiency.Conclusions: G6PD deficiency neither exacerbated nor mitigated the frequency of painful crisis, incidence of infection or anemic episodes in patients with sickle cell disease. Hematologically no significant differences were observed in sickle cell disease patients (AS and SS) with G6PD deficiency as compared to sickle cell disease patients without G6PD deficiency and the control.
Smits HL, Oski FA, Brody JI. The hemolytic crisis of sickle cell disease: the role of glucose-6-phosphate dehydrogenase deficiency. J Pediatr. 1969;74:544-51.
Piomelli S, Reindolf CA, Arzanian MT, Corash LM. Clinical and biochemical interactions of glucose-6-phosphate dehydrogenase deficiency and sickle cell anemia. N Eng J Med. 1972;287(5):213-7.
Bienzle U, Sodeinde O, Effiong CE, Luzzatto L. Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease: frequency and features of the association in an African community. Blood. 1975;46(4):591-7.
Gibbs WN, Wardle J, Serjeani GR. Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease in Jamaica. Brit J Haematol. 1980;45:73-80.
Steinberg MH, West MS, Gallagher D, Mentzer W. Effects of glucose-6-phosphate dehydrogenase deficiency upon sickle cell anemia. Blood. 1988;71(3):748-52.
Saad STO, Costa FF. Glucose-6-phosphate dehydrogenase deficiency and sickle cell disease in Brazil. Hum Hered. 1992;42:125-8.
Bouanga JC, Mouélé R, Préhu C, Wajcman H, Feingold J, Galactéros F. Glucose-6-phosphate dehydrogenase deficiency and homozygous sickle cell disease in Congo. Hum Hered. 1998;48(4):192-7.
Bernstein SC, Bowman JE, Noche LK. Interaction of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency in Cameroon. Hum Hered. 1980;30:7-11.
Mohammad AM, Kasim OA, Bajakian KM. Sickle cell disease in Bahrain: Coexistence and interaction with glucose-6-phosphate dehydrogenase (G6PD) deficiency. J Trop Pediatr. 1998;44:70-2.
Awamy BH. Effect of G6PD deficiency on sickle cell disease in Saudi Arabia. Indian J Pediatr 1992;59:331-4.
Diop S, Sene A, Cisse M, Toure AO, Sow O, Thiam D, Diakhate L. Prevalence and morbidity of G6PD deficiency in sickle cell disease in the homozygote. Dakar Med. 2005;50(2):56-60.
Bernaudin F, Verlhac S, Chevret S, Torres M, Coic L, Arnaud C, et al. G6PD deficiency, absence of alpha-thalassemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anemia. Blood. 2008;112(10):4314-7.
Nouraie M, Reading NS, Campbell A, Minniti CP, Rana SR, Luchtman-Jones L, et al. Association of G6PD with lower haemoglobin concentration but not increased haemolysis in patients with sickle cell anaemia. Br J Haematol. 2010;150(2):218-25.
Burchard GD, Browne EN, Sievertsen J, May J, Meyer CG. Spleen size determined by ultrasound in patients with sickle cell trait, HbAC trait and glucose-6-phosphate-dehydrogenase deficiency in a malaria hyperendemic area (Ashanti Region, Ghana). Acta Trop. 2001;80(2):103-9.
Awah FM, Uzoegwu PN. Influence of sickle heterozygous status and glucose-6-phosphate dehydrogenase deficiency on the clinic-haematological profile of Plasmodium falciparum-infected children. Biochemistri. 2006;18:89-97.
Nieuwenhuis F, Wolf B, Bomba A, De Graaf P. Haematological study in Cabo Delgado province, Mozambique; sickle cell trait and G6PD deficiency. Trop Geogr Med. 1986;38(2):183-7.
Carson PE, Frischer H. Glucose-6-phosphate dehydrogenase deficiency and related disorders of the pentose phosphate pathway. Am J Med. 1966;41:744.
Diggs LW. Sickle cell crises. Am J Clin Path. 1965;44:1-4.
Paglialunga F, Fico A, Iaccarino I, Notaro R, Luzzatto L, Martini G, et al. G6PD is indispensable for erythropoiesis after the embryonic-adult haemoglobin switch. Blood. 2004;104:3148-52.
Talafih K, Hunaiti AA, Gharaibeh N, Gharaibeh M, Jaradat S. The prevalence of hemoglobin S and glucose-6-phosphate dehydrogenase deficiency in Jordanian newborn. J Obstet Gynaecol Res. 1996;22(5):417-20.